Neurol. praxi. 2012;13(2):78-82
Prion diseases
- 1 Neurologická klinika IPVZ a Thomayerovy nemocnice,
- Národní referenční laboratoř pro diagnostiku lidských prionových nemocí, Praha
- 2 Oddělení patologie a molekulární medicíny, Thomayerova nemocnice,
- Národní referenční laboratoř pro diagnostiku lidských prionových nemocí, Praha
Prion diseases are caused by proteinous infectious particles, which are very resistant to usual sterilization procedures. The most current
is Creutzfeldt-Jakob disease. Its diagnosis is based on clinical findings (rapidly progressive dementia, pyramidal or extrapyramidal involvement,
myoclonus, visuo-spatial impairment and akinetic mutism) and positive 14–3–3 protein in CSF and/or periodic activity on EEG.
MRI hyperintensities in FLAIR and diffusion weighted images in subcortical structures (putamen and caudate) and in some cortical areas,
are currently being added to new WHO diagnostic criteria. Early recognition of a prion disease is crucial for the patient and his family,
mainly in case of genetic forms of diseases. Since causal therapy is inexistent, many futile investigations including invasive procedures
can be avoided and adequate palliative care can be introduced.
Keywords: dementia, prion, Creutzfeldt-Jakob disease, protein 14–3–3
Published: April 23, 2012 Show citation
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